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You searched for: Author/Creator Fratter, Carl

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1. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Issue 3 (29th October 2014)

2. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. Issue 1 (29th August 2012)

3. Kearns–Sayre syndrome caused by defective R1/p53R2 assembly. Issue 9 (4th March 2011)

4. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019)

5. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. (3rd November 2021)

6. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (10th January 2017)

7. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Issue 6 (December 2016)

8. The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness. (2nd April 2016)

9. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. (17th May 2016)

10. Retrospective natural history of thymidine kinase 2 deficiency. Issue 8 (30th March 2018)